Synonyms: Pallister-W syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability neurologic signs and symptoms (such as seizures spasticity strabismus) characteristic dysmorphic facial features (including broad forehead hypertelorism downslanting palpebral fissures broad and flat nasal bridge midline notch of upper lip lack of upper central incisors incomplete oral cleft and prominent mandible) and acne scars. Hearing impairment pseudo-bulbar palsy growth retardation and skeletal anomalies (camptodactyly clinodactyly bilateral cubitus valgus pes cavus/planus) have also been described.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2026
Newly diagnosed with
W syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.